Standards and Guidelines for CFTR Mutation Testing

Prothrombin time testing practices: adherence to guidelines and standards.

Coagulation laboratory tests are vital to the diagnosis, treatment, and management of bleeding and hypercoagulability disorders. Some laboratories, however, fail to follow voluntary practice guidelines for coagulation testing (1, 2), and inappropriate performance of coagulation tests, such as the prothrombin time (PT) test, may contribute to coagulation and bleeding complications (3, 4). A 2001...

Acmg Standards and Guidelines

introduction Laboratories are beginning to offer pharmacogenetics assays in support of continuing efforts toward more personalized medicine. In patients with breast cancer for whom treatment with tamoxifen is being considered, the clinical validity of CYP2D6 genotyping is not well established. Nonetheless, the results may be helpful in identifying patients who will not respond well to the treat...

REMC Standards and Guidelines for RNA-sequencing

Next-generation sequence based transcriptome methodologies (broadly referred to as RNA-seq) were initially developed in 2007 for massively parallel short read sequencing platforms. RNA-seq involves purification of RNA, followed by either selection of poly-A(+) RNA or depletion of ribosomal RNA. RNA is then converted into cDNA by one of two methods; 1) random priming, followed by cDNA fragmentat...

Guidelines: minimum standards, gold standards, or ideals for practice?

I have a spectrum of reactions to guidelines. Most impress me with the sheer volume of material that has been reviewed. Some show great thoughtfulness & practicality, such as the “Guidelines for Management of Valvular Heart Disease” [1]. Others contain recommendations without basis in trial data, such as the recent PCI guideline suggestion that post-PCI CK-MB elevations might require additional...

"Gold standards" for vision testing.